Outcomes of Triceps Surae Lengthening Surgery in Children With Charcot-Marie-Tooth Disease: A Multisite Investigation.

Background: Orthopaedic surgical intervention in children with Charcot-Marie-Tooth (CMT) often includes triceps surae lengthening (TSL) and foot procedures to address instability and pain due to equinus and cavovarus deformities. These surgeries may unmask underlying weakness in this progressive disease causing increased calcaneal pitch and excessive dorsiflexion in terminal stance leading to crouch. The purpose of this study was to evaluate changes in ankle function during gait following TSL surgery in children with CMT.

Oxidised Apolipoprotein Peptidome Characterises Metabolic Dysfunction-Associated Steatotic Liver Disease.

Background: Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) encompasses a spectrum of histological conditions ranging from simple steatosis to fibrosing steatohepatitis, and is a risk factor for cardiovascular diseases (CVD). While oxidised apolipoproteins A and B have been linked to obesity and CVD, the association between other oxidised apolipoproteins and MASLD is yet to be established. To fill this gap, we characterised the circulating serum peptidome of patients with MASLD.

Living the good life? A systematic review of behavioural signs of affective state in the domestic horse () and factors relating to quality of life. Part 2: Horse-human interactions.

Quality of life is dependent upon the extent to which behavioural needs are met, and the balance between pleasant and unpleasant lifetime experiences. In Part II of this systematic review, articles (n = 109) relating to horse-human interactions were reviewed to identify behavioural evidence of their positive or negative impact on the horse. The number of articles (n = 22) relating to the recognition of pain in horses, indicated the importance of identifying health issues, which are also likely to increase the aversiveness of interactions.

Living the good life? A systematic review of behavioural signs of affective state in the domestic horse () and factors relating to quality of life. Part I: Fulfilment of species-specific needs.

The welfare of horses involved in sport and leisure activities has come under increasing scrutiny, both from within the equine sector and from the public. A systematic review of scientific evidence was conducted to derive observable, evidence-based behavioural measures of positive or negative affective state and factors relating to quality of life in the domestic horse (). Two separate searches (including the terms 'emotion/affect', or 'stress') were conducted, with 179 articles being retained.

Molecular mechanisms underlying glucose-dependent insulinotropic polypeptide secretion in human duodenal organoids.

Aims/hypothesis: Glucose-dependent insulinotropic polypeptide (GIP) is an incretin hormone secreted by enteroendocrine K cells in the proximal small intestine. This study aimed to explore the function of human K cells at the molecular and cellular levels.

Methods: CRISPR-Cas9 homology-directed repair was used to insert transgenes encoding a yellow fluorescent protein (Venus) or an Epac-based cAMP sensor (Epac-S-H187) in the GIP locus in human duodenal-derived organoids.

Single-cell transcriptomic atlas of enteroendocrine cells along the murine gastrointestinal tract.

Background: Enteroendocrine cells (EECs) produce over 20 gut hormones which contribute to intestinal physiology, nutrient metabolism and the regulation of food intake. The objective of this study was to generate a comprehensive transcriptomic map of mouse EECs from the stomach to the rectum.

Methods: EECs were purified by flow-cytometry from the stomach, upper small intestine, lower small intestine, caecum and large intestine of NeuroD1-Cre mice, and analysed by single cell RNA sequencing.

Overexpression of Igf2-derived Mir483 inhibits Igf1 expression and leads to developmental growth restriction and metabolic dysfunction in mice.

Mir483 is a conserved and highly expressed microRNA in placental mammals, embedded within the Igf2 gene. Its expression is dysregulated in a number of human diseases, including metabolic disorders and certain cancers. Here, we investigate the developmental regulation and function of Mir483 in vivo.

Hip Surgery is Not More Painful Than Spine Surgery in Children With Cerebral Palsy.

Background: Posterior spinal fusion (PSF) and hip reconstruction are commonly indicated surgeries in children with cerebral palsy (CP), particularly those functioning at GMFCS levels IV and V. These are large and often painful procedures, and previous literature suggests that hip surgery is more painful than spine surgery in this patient population. The purpose of this study is to investigate pain scores and opioid use following hip and spine surgery in a large cohort of children with CP, including many patients who have undergone both types of surgery.

Making cups and rings: the 'stalled-wave' model for macropinocytosis.

Macropinocytosis is a broadly conserved endocytic process discovered nearly 100 years ago, yet still poorly understood. It is prominent in cancer cell feeding, immune surveillance, uptake of RNA vaccines and as an invasion route for pathogens. Macropinocytic cells extend large cups or flaps from their plasma membrane to engulf droplets of medium and trap them in micron-sized vesicles.

Drop Foot With Posterior Tibialis Weakness Treated With Peroneus Longus Transfer in a Child: A Case Report.

Case: An 8-year-old girl with a history of acute flaccid paralysis presented with chronic valgus drop foot causing tripping and falling. Traditionally surgical correction of this deformity is accomplished by transferring the posterior tibialis tendon to enhance dorsiflexion. The authors describe a new technique which transfers the peroneus longus tendon to the dorsum of the foot in a patient with weakness of the posterior tibialis muscle.

Dental sculpting and compensatory shearing crests demonstrated in a WEAR series of Presbytis rubicunda (Cercopithecoidea, Colobidae) with dental topography analysis.

Objectives: Maintaining effective and efficient occlusal morphology presents adaptive challenges for mammals, particularly because mastication produces interactions with foods and other materials that alters the geometry of occlusal surfaces through macrowear and/or catastrophic failure (i.e. "chipping").

Pediatric Outcomes Data Collection Instrument Scores Within Gross Motor Function Classification Scale Levels and Functional Mobility Scale Ratings in Individuals With Cerebral Palsy.

Background And Objective: The Pediatric Outcomes Data Collection Instrument (PODCI) is a patient/parent-reported outcome measure used in children with cerebral palsy (CP). PODCI score variability has not been widely examined in patients of Gross Motor Function Classification System (GMFCS) level IV or using the Functional Mobility Scale (FMS). The purpose of this study is to examine the distribution of PODCI scores within patients with CP GMFCS levels I-IV and FMS levels 1-6.

Motilin fluctuations in healthy volunteers determined by liquid chromatography mass spectrometry.

Introduction: Motilin is a hormone secreted by specialised enteroendocrine cells in the small intestine, and is known to modulate gastrointestinal motility in humans, regulating the migratory motor complex. It is understudied at least in part due to the lack of commercially available immunoassays.

Method: A multiplexed liquid chromatography mass spectrometry (LC-MS/MS) method was optimised to measure motilin, insulin, C-peptide, GIP (1-42) and GIP (3-42).

Epidemiology of musculoskeletal injury in professional and amateur golfers: a systematic review and meta-analysis.

Objective: To determine the prevalence and incidence of musculoskeletal injury in amateur and professional golfers, and to identify common injury sites and factors associated with increased injury frequency.

Design: Systematic epidemiological review and meta-analysis.

Data Sources: PubMed (Medline), Embase, the Cochrane Library and SPORTDiscus were searched in September 2023.

Cardiovascular pathology, inheritance and prognosis in a familial cohort of Loeys-Dietz type III.

Introduction: Loeys-Dietz syndrome (LDS) is a heritable disease that is the result of dysregulation of the transforming growth factor beta (TGFβ) pathway. The pathogenic variants associated with the condition are linked to aortic aneurysms and dissections along with other cardiovascular and non-cardiovascular abnormalities. LDS type III is associated with pathogenic variants in the SMAD3 gene responsible for signally in the TGFβ pathway.

Does Size Really Matter? Incidence of Periprosthetic Fractures After Femoral Osteotomy in Patients With Cerebral Palsy.

Objective: Of children, 30% to 35% with cerebral palsy (CP) develop hip subluxation or dislocation and often require reconstructive hip surgery, including varus derotation osteotomy (VDRO). A recent literature review identified postoperative fractures as the most common complication (9.4%) of VDROs.

The incidence of subsequent contralateral hip fracture and factors associated with increased risk: the IMPACT Contralateral Fracture Study.

Unlabelled: Patients who sustain a contralateral hip fracture experience significantly inferior outcomes; however, the incidence and predictors of contralateral hip fracture remain poorly understood. In the present study, 2.5% of patients sustained a contralateral hip fracture within 12 months, and socioeconomic deprivation was associated with reduced risk of contralateral hip fracture.

Mapping of Family Reported Outcome Measure (FROM-16) scores to EQ-5D: algorithm to calculate utility values.

Objective: Although decision scientists and health economists encourage inclusion of family member/informal carer utility in health economic evaluation, there is a lack of suitable utility measures comparable to patient utility measures such those based on the EQ-5D. This study aims to predict EQ-5D-3L utility values from Family Reported Outcome Measure (FROM-16) scores, to allow the use of FROM-16 data in health economic evaluation when EQ-5D data is not available.

Methods: Data from 4228 family members/partners of patients recruited to an online cross-sectional study through 58 UK-based patient support groups, three research support platforms and Welsh social services departments were randomly divided five times into two groups, to derive and test a mapping model.

Update on the reliability of gait analysis interpretation in cerebral palsy: Inter-institution agreement.

Background: Studies have shown good reliability for gait analysis interpretation among surgeons from the same institution. However, reliability among surgeons from different institutions remains to be determined.

Research Question: Is gait analysis interpretation by surgeons from different institutions as reliable as it is for surgeons from the same institution?

Methods: Gait analysis data for 67 patients with cerebral palsy (CP) were reviewed prospectively by two orthopedic surgeons from different institutions in the same state, each with > 10 years' experience interpreting gait analysis data.

Trial of -Acetyl-l-Leucine in Niemann-Pick Disease Type C.

Background: Niemann-Pick disease type C is a rare lysosomal storage disorder. We evaluated the safety and efficacy of -acetyl-l-leucine (NALL), an agent that potentially ameliorates lysosomal and metabolic dysfunction, for the treatment of Niemann-Pick disease type C.

Methods: In this double-blind, placebo-controlled, crossover trial, we randomly assigned patients 4 years of age or older with genetically confirmed Niemann-Pick disease type C in a 1:1 ratio to receive NALL for 12 weeks, followed by placebo for 12 weeks, or to receive placebo for 12 weeks, followed by NALL for 12 weeks.